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Links from MedGen

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COCH, LOC100506071
Deletion
(inframe_deletion)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
(G103D +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
(L114P +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GPathogenic
COCH, LOC100506071
(Q110R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GLikely benign
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GLikely benign
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 9
+1 more
GBenign/Likely benign
COCH, LOC100506071
(Y166N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
(R98Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
+2 more
GUncertain significance
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GLikely benign
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GLikely benign
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GLikely benign
COCH, LOC100506071
(P154H +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
(Y479F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 9
+1 more
GConflicting classifications of pathogenicity
LOC100506071, COCH
(I437T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
COCH, LOC100506071
(R384C +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 9
GLikely pathogenic
COCH, LOC100506071
(R91Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GLikely benign
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GBenign
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
COCH
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 9
+2 more
GBenign
COCH, LOC100506071
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
(I402V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 9
+2 more
GBenign/Likely benign
COCH, LOC100506071
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 9
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
COCH, LOC100506071
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 9
+1 more
GBenign/Likely benign
COCH, LOC100506071
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 9
+2 more
GBenign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
Nonsyndromic genetic hearing loss
GBenign
COCH, LOC100506071
(L387F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 9
GPathogenic
COCH, LOC100506071
(R324Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
COCH, LOC100506071
(I450V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
Nonsyndromic genetic hearing loss
GBenign
COCH, LOC100506071
(D281N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nonsyndromic genetic hearing loss
GBenign
COCH, LOC100506071
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GBenign
COCH, LOC100506071
(Y424D +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GBenign/Likely benign
COCH, LOC100506071
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GBenign
COCH, LOC100506071
(T352S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GBenign
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COCH, LOC100506071
(E518G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GBenign
LOC100506071, COCH
(M512T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 9
GPathogenic
COCH, LOC100506071
(C542Y +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 9
GPathogenic
COCH, LOC100506071
(C542F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic
COCH, LOC100506071
(A119T +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GUncertain significance
COCH, LOC100506071
(I109N +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COCH, LOC100506071
(P51S +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
LOC100506071, COCH
(W117R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GPathogenic
COCH, LOC100506071
(G88E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COCH, LOC100506071
(V66G +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 9
GPathogenic
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